Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
Abstract Background To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal imaging. Methods The Irish National...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2018-11-01
|
| Seri Bilgileri: | BMC Medical Genetics |
| Konular: | |
| Online Erişim: | http://link.springer.com/article/10.1186/s12881-018-0712-8 |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|